ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2005del (p.Ser669fs) (rs773174603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598632 SCV000710167 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing This deletion of one nucleotide in PMS2 is denoted c.2005delA at the cDNA level and p.Ser669ValfsX19 (S669VfsX19) at the protein level. The normal sequence, with the base that is deleted in brackets, is GATA[delA]Ggta. The deletion causes a frameshift which changes a Serine to a Valine at codon 669, and creates a premature stop codon at position 19 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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